Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I137V
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SCN5A

NM_000335.5:p.I137V

Associated Papers

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.

Swan H et al.

Circulation. Cardiovascular Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."